Late-Onset Pompe Disease, Lysosomal Disease
Conditions
Keywords
LOPD
Brief summary
Study Objectives: 1) assess the safety and feasibility of high-dose inspiratory muscle training (IMT) delivered remotely in Late-onset Pompe Disease (LOPD) and 2) determine its effects on respiratory and patient-reported outcomes.
Detailed description
This study aims to develop treatments that enhance respiratory strength and function to provide meaningful clinical improvements for people with LOPD. Identification of a cost-effective adjunctive intervention to address respiratory weakness remains critical to reduce disease burden, ease activity limitations and participation restrictions, and improve health-related quality of life. The proposed study will provide a high-dose inspiratory muscle training (IMT) stimulus to enhance treatment efficacy and efficiency. Our hypothesis is that high-dose IMT is necessary to produce meaningful changes in respiratory muscle strength and other outcomes in participants with LOPD.
Interventions
DEVICEIMT therapy using the Pr02 mobile device
Inspiratory Muscle Training using a device used to measure and increase respiratory strength and performance through resisted breathing exercises.
Sponsors
Genzyme, a Sanofi Company
Duke University
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age ≥ 18 years * Confirmed diagnosis of LOPD * MIP \>50% of predicted for sex and age * Stable on current Pompe disease treatment regimen \>6 months * Able to follow directions for study participation * Access to computer and smartphone/tablet with reliable internet connection for video visits and sensor-based respiratory technologies
Exclusion criteria
* Presence of medical comorbidities that prevent meaningful study participation (e.g., COPD GOLD III-IV, significant mental illness, dementia) * Use of continuous invasive or non-invasive ventilation while awake * Prior history of gene therapy for LOPD * Inability to give legally effective consent * Inability to read and understand English
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in maximum inspiratory pressure (MIP) | Baseline, week 15, week 30 | Change pre-test to post test, measured in cm H20 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in inspiratory power curve (IPC) | Baseline, week 15, week 30 | Change pre-test to post test, measured in pressure-time units (PTUs) |
| Change in forced vital capacity (FVC) | Baseline, week 15, week 30 | Change pre-test to post-test, measured in liters using a portable hand-held spirometer |
| Change in inspiratory duration (ID) | Baseline, week 15, week 30 | Change pre-test to post test, measured by duration in seconds |
| Change in fatigue index test score (FIT) | Baseline, week 15, week 30 | Change pre-test to post test, a proprietary measure which quantifies propensity to inspiratory muscle fatigue based upon the relationship between inspiratory capacity and demand using the following equation: (IPC \[in Watts\] x MID) / (Power500 x T500), where Power500 = power expended to inspire a mass of 500 mL air and T500 = time when mass of inspired air=500 mL at sea level |
| Change in forced expiratory volume over 1 second (FEV1) | Baseline, week 15, week 30 | change pre-test to post-test, measured in liters per second using a portable hand-held spirometer |
| Change in peak expiratory flow (PEF) | Baseline, week 15, week 30 | change pre-test to post-test, measured in liters per second using portable hand-held spirometer |
| Change in inspiratory phase duration (IPD) | Baseline, week 15, week 30 | change pre-test to post-test, measured in seconds |
| Change in inspiratory peak flow (IPF) | Baseline, week 15, week 30 | Change pre-test to post-test, measured in liters per second |
| Change in voice quality | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Voice Handicap Index (VHI-10) survey completion using a 5-point scale (0=never, 1=almost never, 2=sometimes, 3=almost always, 4=always). Item responses are added to obtain a total score (values \>11 abnormal) with higher scores indicating greater perception of voice-related handicap. |
| Change in compression phase duration (CPD) | Baseline, week 15, week 30 | Change pre-test to post-test, measured in seconds |
| Change in maximum expiratory pressure (MEP) | Baseline, week 15, week 30 | Change pre-test to post test, measured in cm H20 |
| Change in cough volume acceleration (CVA) | Baseline, week 15, week 30 | Change pre-test to post-test, measured by EPF/EPRT |
| Change in fatigue | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Fatigue Severity Scale (FSS) survey completion, using a 7 point ordinal scale where a rating of 1 indicates strong disagreement and a rating of 7 indicates strong agreement. |
| Change in impact of fatigue on quality of life (QOL) | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Modified Fatigue Impact Scale (MFIS) survey completion using a score of 0 (never affected) to 4 (almost always affected). The total score ranges from 0 to a maximum of 84. Higher scores indicate greater impact of fatigue on quality of life. |
| Change in daytime sleepiness | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Epworth Sleepiness Scale (ESS) survey completion using a 0 to 3 ordinal scale in which 0=no chance of dozing, 1=slight chance of dozing, 2= moderate chance of dozing, and 3=high chance of dozing. Scores are summed to obtain total ESS score where a score \>10 reflects excessive daytime sleepiness. |
| Change in sleep quality | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Pittsburgh Sleep Quality Index (PSQI) survey completion. The PSQI is a 9-question, 19-item instrument. Items 1 to 4 are open-ended questions (customary bedtime, length of time to fall asleep). Items 5 to 8 (including the 10 questions comprising item 5) are sleep symptoms which are rated as to their frequency using an ordinal scale: 0=not occurring in the last month, 1=less than once a week, 2=once or twice a week, and 3=three or more times a week. Item 9 is a rating of overall sleep quality over the past month using a 0 to 3 ordinal scale: 0=very good; 1=fairly good; 2= fairly bad; and 3=very bad. Scores from the 19-items are combined according to standard scoring criteria to obtain a Global PSQI score. Scores \>5 indicate reduced sleep quality. |
| Change in respiratory symptoms | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Respiratory Symptoms Questionnaire (RSQ) completion using a 0-3 scale where a higher score indicates worse symptoms. |
| Change in motor performance | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Rotterdam Handicap Scale (RHS) survey completion using a ranging scale of 1 - 4 where 1 = unable to fulfil the task or activity and 4 = complete fulfillment of the task or activity. Scores are summed and range from 9-36. |
| Change in health-related quality of life | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Short Form 36 (SF-36) survey completion where physical and mental component summary scales (PCS and MCS) are calculated from the subscales and transformed to a normalized T-score with a mean of 50 and a standard deviation of 10. Higher scores represent better health-related quality of life. |
| Change in ability to communicate | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Communicative Participation Item Bank-Short From (CPIB-10) survey completion using a 4-point scale (not at all=3, a little=2, quite a bit=1, very much=0). Item scores are added to obtain the summary score which ranges from 0-30. This can be transformed into a standard T score (mean=50, SD=10). Higher scores represent less interference in communication participation. |
| Change in swallowing symptoms | Baseline, week 15, week 30 | Change pre-test to post-test, measured by Eating Assessment Tool (EAT-10) survey completion using a 5-point scale (0=no problem, 4=severe problem). Item responses are added to obtain a total score (values \>3 abnormal) with higher scores indicating greater severity of swallowing symptoms. |
| Change in expiratory phase rise time (EPRT) | Baseline, week 15, week 30 | Change pre-test to post-test, measured in liters per second |
Countries
United States
Outcome results
None listed